No abstract available.
Alleles* ; Base Sequence* ; DNA* ; HLA-DR4 Antigen* ; HLA-DRB1 Chains*

To determine which HLA antigens are associated with rheumatoid arthritis in Korean, we studied the HLA class II genotypes in 40 patients with rheumatoid arthritis and 35 normal healthy persons by the two step polymerase chain reaction. At first we designed 20 pairs of group specific primers followed by the alleles which have the same nucleotide sequences in the exon 2 region. We performed amplification reaction with these 20 pairs of primers for 32 cycles. Reaction products were electrophoresed and only specifically amplified products were reamplified for 15 cycles with total 76 pairs of allele specific primers. We typed the HLA class II genotypes with specific band patterns of each allele. The genotypes in patients were compared with those of normals. HLA-DR4 gave the highest relative risk for rheumatoid arthritis (RR=4), which was statistically significant (P<0.01). The frequency of HLA-DR4 was 75.0% in patient group and 42.9% in normal control group. Relative risk was also associated with HLA-DQw4 of DQB1 gene (RR=3.82), which was statistically significant (P<0.05). The frequency of HLA-DQw4 was 38.9% in patient group and 14.3% in normal control group. HLA-DRI and DQw3 were not associated with rheumatoid arthritis (P>0.05). Among HLA-DR4 subtypes, the frequency of Dwl4(0404) in patient group was relatively higher (19.2%) than that in normal control group(7.7%). The relative risk was high (2.85), although it was not statistically significant (P>0.05). From this study, HLA-DR4 was found to be highly associated while DRI was not associated with rheumatoid arthritis patients in Koreans.
Alleles ; Arthritis, Rheumatoid* ; Base Sequence ; Exons ; Genotype* ; HLA Antigens ; HLA-DR4 Antigen ; Humans ; Polymerase Chain Reaction

Kleine-Levin syndrome (KLS) is characterized by recurring episodes of hypersomnia, megaphagia, and abnormal behavior. We report two cases of KLS. Two boys, aged 18 (case 1) and 17 (case 2), had recurrent episodes of hyper-somnolence with compulsive eating or drinking and hypersexuality for several years. HLA-DR typing was HLA-DR3 and 13 in case 1 and HLA-DR4 and 10 in case 2. Case 1 showed hypersomnia with early onset of REM sleep on MSLT and frequent frontal intermittent rhythmic delta activity on EEG. Both cases showed no abnormalities on brain MRI. HLA-DR typing facilitates differentiation between KLS and narcolepsy by the absence of HLA-DR2.
Brain ; Disorders of Excessive Somnolence ; Drinking ; Eating ; Electroencephalography ; HLA-DR Antigens ; HLA-DR2 Antigen ; HLA-DR3 Antigen ; HLA-DR4 Antigen ; Kleine-Levin Syndrome* ; Magnetic Resonance Imaging ; Narcolepsy ; Sleep, REM

A 30-year-old female patient with coexisting ankylosing spondylitis and rheumatoid arthritis was diagnosed and treated. The human leukocyte antigen (HLA)-B27 is a predisposing factor of ankylosing spondylitis and HLA-DR4 is a predisposing factor of rheumatoid arthritis. This patient was HLA-B27 and HLA-DR4 positive, and ankylosing spondylitis manifested before rheumatoid arthritis. After disease modifying anti-rheumatic drugs successfully arrested ankylosing spondylitis activity the patient conceived and delivered a healthy baby. One year later, she developed peripheral polyarthritis and was diagnosed with rheumatoid arthritis. We hypothesized that pregnancy may be one of the environmental factors that can activate rheumatoid arthritis, and that disease modifying anti-rheumatic drugs play an important role in keeping the disease under control.
Adult ; Arthritis, Rheumatoid ; diagnosis ; metabolism ; Female ; HLA-B27 Antigen ; metabolism ; HLA-DR4 Antigen ; metabolism ; Humans ; Spondylitis, Ankylosing ; diagnosis ; metabolism

BACKGROUND/AIMS: Palindromic rheumatism (PR) is an episodic arthropathy that may precede typical rheumatoid arthritis (RA). The objective of this study was to determine whether anti-cyclic citrullinated peptide (anti-CCP) antibodies in patients with PR contribute to the progression to RA. METHODS: The study group included 115 patients who were initially diagnosed with PR. Baseline serum samples were stored and analyzed for the presence of anti-CCP antibodies, APF, and RF or for anti-CCP antibodies and HLA-DR4. A multiple logistic regression analysis was used to identify predictive factors for progression to RA. RESULTS: The anti-CCP antibodies APF and RF were found in 33.3%, 28.9%, and 35.7% of the 115 patients with PR, and 36 (31.3%) of these patients eventually progressed to RA. Comparing the risk factors for patients who progressed to RA (31.3%) and those who did not (68.7%), only the presence of anti-CCP antibodies was found to affect progression to RA (95% CI for OR, 0.0001-0.114; p<0.001). HLA-DR4-positivity was noted in 40% of the patients with PR, although it did not affect progression to RA and was not significantly associated with the presence of anti-CCP antibodies. CONCLUSIONS: Anti-CCP antibodies are found more frequently in patients with PR who eventually progress to RA. Therefore, anti-CCP antibody testing of patients with PR may facilitate prediction of progression to RA.
Antibodies ; Arthritis, Rheumatoid ; HLA-DR4 Antigen ; Humans ; Logistic Models ; Rheumatic Diseases ; Risk Factors

OBJECTIVE: A genetic predisposition is widely accepted in schizophrenia. This study was intended to find any association of HLA-DRB1 alleles with Korean schizophrenics and thereby compare the results of other ethnic groups. METHODS: The subjects were 70 unrelated Korean patients. Low and high resolution typing of HLA-DRB1 alleles were performed. The comparison groups were 2,000 unrelated healthy Koreans for low resolution HLA-DR and 229 unrelated healthy Koreans for HLA-DRB1 alleles. RESULTS: Gene frequencies of HLA-DR11(patients 9.0%, healthy control 3.8%, p=0.005) and HLA-DRB1*1101(patients 9.0%, healthy control 1.8%, p< .001) were significantly higher in Korean schizophrenics. CONCLUSIONS: The frequency of HLA-DR11 (HLA-DRB1*1101) is significantly higher in Korean schizophrenics than in healthy Koreans. HLA-DR4 and HLA-DR1, which were known to be associated with Caucasian and Japanese schizophrenics, respectively, did not show statistical association with Korean schizophrenics. This association need to be reassured through further studies with families or association study with larger numbers of subjects.
Alleles* ; Asian Continental Ancestry Group ; Ethnic Groups ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DR Antigens ; HLA-DR1 Antigen ; HLA-DR4 Antigen ; HLA-DRB1 Chains* ; Humans ; Schizophrenia

In order to evaluate association of particular HLA typing with certain uveitis in Korean population, HLA antigens were analyzed in 114 uneitis patients(acute anterior uveitis: 32 cases, Behcet`s disease: 25 cases, intermediate uveitis: 19 cases, Vogt-Koyanagi-Harada (V-K-H) syndrome: 10 cases, retinal vasculitis: 12 cases, Eale`s disease: 3 cases, posterior uveitis: 9 cases, pan.uveitis: 4 cases). The stronger association between acute anterior uveitis and HLA-B27 was statistically significant, and this result was similar to reports in other ethnic groups. Also, the association between V-K-H syndrome and HLA-DR4 showed same results. But the high frequency of HLA-DR7 in the patients with V-K-H syndrome was unque in patients of Korean popjlation and statistically significant. The association between HLA-A2 and posterior uveitis was high in patients of Korean population and statistically significant. Behcet`s disease was stronger association with HLA-B51 but not statistically significant and much weaker association than reports in Japanese group. Although many similarities of associations between particular uveitis and HLA typing were detected as compared with other ethnic groups, distinctive HLA associations were demonstrated in Korean population. Additional cases and long-term follow-up are required to confirm the association with HLA typing and the relationship with prognosis including clinical and laboratory variabilities.
Asian Continental Ancestry Group ; Ethnic Groups ; Follow-Up Studies ; Histocompatibility Testing ; HLA Antigens ; HLA-A2 Antigen ; HLA-B27 Antigen ; HLA-B51 Antigen ; HLA-DR4 Antigen ; HLA-DR7 Antigen ; Humans ; Prognosis ; Retinal Vasculitis ; Uveitis* ; Uveitis, Anterior ; Uveitis, Intermediate ; Uveitis, Posterior

Human Leukocyte Antigen (HLA) typing of large groups of patients with various autoimmune diseases has demonstrated that some HLA alleles occur at higher frequencies in specific diseases than in the general population. Chronic urticaria has been shown to have an autoimmune basis by a previous study which found an association between chronic urticaria and specific HLA groups. We investigated the HLA subtypes of Turkish chronic urticaria patients. For this purpose 42 Turkish patients with chronic urticaria and 115 healthy controls were typed for HLA-DR and DQ by PCR-SSP (Polymerase Chain Reaction Sequence Specific Primers) low resolution DNA technique. We found an increased frequency of DR4 (42.9%, p=0.01) in chronic urticaria patients in comparison with that in healthy controls. This study supports the hypothesis that HLA alleles may be involved in the pathogenesis of chronic urticaria and that they appear to be directly involved in the initiation of the immune response.
Chronic Disease ; HLA-DQ Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DR4 Antigen/genetics ; Histocompatibility Antigens Class II/*genetics ; *Histocompatibility Testing ; Human ; Urticaria/*genetics/*immunology

BACKGROUND: Specific IgE responses to allergens provide useful models for evaluating the genetic factors that control human immune responses. HLA class II gene products are involved in the antigen presentation of exogenous antigens. OBJECTIVE: The aim of this study was to evaluate whether susceptibility or resistance to asthma induced by the citrus red mite (Panonychus citri, CRM) was associated with HLA class II gene-encoded antigens. METHODS: Peripheral venous blood samples were collected from two groups of unrelated Korean adults. Ninety-one patients with citrus red mite-induced asthma and 98 exposed, healthy control subjects. The second exon of the HLA-DRB1 genes was selectively amplified by the polymerase chain reaction method. HLA typing was carried out using PCR-sequence specific oligonucleotide probes(PCR-SSOP). RESULTS: The frequency of HLA-DR7 was significantly higher among the CRM-sensitive asthmatics than among the controls (17.6% vs 4.1%, RR=3.92, p=0.01). Conversely, the frequency of HLA-DR4 was significantly lower among the CRM-sensitive asthmatics than among the controls(19.8% vs 40.8%, RR=0.36, p=0.01). No significant difference was found in the distributions of the other HLA-DRB1 gene-encoded antigens between the two groups. CONCLUSION: HLA-DRB1 genes may be involved in the development of citrus red mite-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing asthma in exposed individuals.
Adult ; Allergens ; Antigen Presentation ; Asthma* ; Citrus* ; Exons ; Genes, MHC Class II ; Histocompatibility Testing ; HLA-DR Antigens ; HLA-DR4 Antigen ; HLA-DR7 Antigen ; HLA-DRB1 Chains ; Humans ; Immunoglobulin E ; Mites* ; Polymerase Chain Reaction

OBJECTIVETo analyze the association between alleles of HLA-DRB1 and type I autoimmune hepatitis (AIH) in patients from Shanghai, China.

METHODSIn 32 Chinese patients with type I AIH and 48 healthy controls in Shanghai area, polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) was performed to examine the association of the alleles of HLA-DRB1 and its subtypes with type I AIH.

RESULTSHLA-DRB1 typing by PCR-SSP showed that DR4 had a significantly increased frequency among patients with AIH versus healthy control (46.9% versus 20.8%; relative risk=3.35, chi(2)=5.99, P=0.014). No other alleles differed significantly between the two groups. In subtypes of DRB1*04, there was a trend for an increase in gene frequency of DRB1*0405 increased in patients with type I AIH versus healthy controls (21.9% vs 6.3%, chi(2)=4.23, P=0.04, but Pc=0.08). The frequency of arginine at position HLA-DR beta 71 of third hypervariable region significantly increased among patients with AIH versus healthy control (46.9% versus 18.8%, chi(2)=7.14, P=0.008).

CONCLUSIONSType I AIH in Chinese patients of Shanghai area is associated with HLA-DR4 and arginine at position DR beta 71 of third hypervariable region

Alleles ; Asian Continental Ancestry Group ; China ; DNA Primers ; Gene Frequency ; HLA-DR4 Antigen ; HLA-DRB1 Chains ; genetics ; Hepatitis, Autoimmune ; genetics ; Humans ; Polymerase Chain Reaction